The Diseases

California state law requires that all babies born in the State have the Newborn Screening (NBS) Test before leaving the hospital. This test screens for specific diseases (also called disorders) in the following groups:

Metabolic Diseases

Metabolic diseases affect the body's ability to use certain parts of food for growth, energy, and repair. The parts include amino acids from proteins, fatty acids from fats and organic acids from proteins, fats, and sugars. To break down or convert these substances, certain proteins called enzymes must be present. When there aren't enough of the needed enzymes, some substances build up in large amounts and may be harmful to the body. Metabolic diseases have varying degrees of severity. If identified early, many of these conditions can be treated before they cause serious health problems. Treatment may include close monitoring of the person's health, medication, dietary supplements, and/or special diets.

These are some of the metabolic diseases screened for by the NBS Program:

Phenylketonuria (PKU) - Babies with PKU have problems when they eat foods high in protein such as milk (including breast milk and formula), meat, eggs, and cheese. Without treatment babies with PKU develop mental retardation and/or have other health problems. A special diet can prevent these problems.

Galactosemia - Babies with this disease cannot use some of the sugars in milk, formula and breast milk, and other foods. Without treatment babies with galactosemia can become very sick and die. A special infant formula and diet can help prevent these problems.

Maple Syrup Urine Disease (MSUD) - Babies with MSUD have problems using fats and protein. Without treatment, MSUD can cause mental retardation or death. Treatment with a special diet can prevent these problems.

Biotinidase Deficiency (BD)- Babies with Biotinidase Deficiency are missing, or do not have enough of, the enzyme biotinidase. Biotinidase helps our body process biotin from the foods we eat and reuse the biotin. If left untreated, babies will develop symptoms that can include skin rash, poor muscle tone, developmental delay (mental retardation), seizures, hearing loss, vision problems, hair loss and some life-threatening conditions. Treatment is a biotin supplement that must be taken every day shortly after birth and is life long.

Homocystinuria - Babies with this disease have problems breaking down protein. Without treatment babies can have delayed development, eye problems, and/or other health problems. A special diet can help prevent these problems.

As other guides are developed and printed, they will be posted here. For information about the other metabolic disorders, please see the FELSI Star-G website.

Endocrine Diseases

Babies with endocrine diseases make too much or too little of certain hormones. Hormones are produced by glands in the body and affect body functions.

Congenital Adrenal Hyperplasia (CAH)- The adrenal glands of babies with this disease do not make enough of the key stress-fighting hormone cortisol. In about two-thirds of the cases, babies also do not produce enough of the salt-retaining hormone aldosterone. As a result, affected babies can develop dehydration, shock, and even death. Treatment with one or more oral medicines can help prevent these problems. Girls with this condition may have the additional problem of having masculine-looking external genitals, which can be corrected with surgery.

Primary Congenital Hypothyroidism- Babies born with this disease do not have enough thyroid hormone. Without enough hormone, babies grow very slowly and have mental retardation. These problems can be prevented by giving the baby special thyroid medicine every day.

Hemoglobin Diseases

Hemoglobin is found in red blood cells. It gives blood its red color and carries oxygen to all parts of the body. Hemoglobin diseases often lead to anemia because they affect the type and amount of hemoglobin in the red blood cells. Treatment may include medication, folic acid and close monitoring of the child’s health.

These are some of the hemoglobin diseases that are part of the newborn screening test:

Sickle Cell Anemia and other Sickle Cell Diseases- These diseases affect the type of hemoglobin in the baby's red blood cells. Babies with sickle cell disease can get very sick and even die from common infections. Many of the infections can be prevented with daily antibiotics. Ongoing health care and close monitoring help children with hemoglobin diseases stay as healthy as possible.

Hemoglobin H Disease - This disease affects the amount of hemoglobin in the baby's blood. There is less hemoglobin, which results in smaller red blood cells. This also causes the cells to break down faster than normal. Babies with this disease can have mild to severe anemia, as well as other health problems. Treatment can include blood transfusions, taking folic acid, and avoiding certain medications and household products.

Cystic Fibrosis

Cystic fibrosis (CF) - This disease is characterized by a defective gene that causes the body to produce abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food. People with cystic fibrosis have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm; wheezing or shortness of breath; an excessive appetite but poor weight gain; and greasy, bulky stools. Treatment can include taking digestive enzymes when eating fat-containing foods, daily therapies to dislodge mucus from the lungs, regular use of antibiotics and anti-inflammatory drugs to prevent or lessen damage to the lungs, and careful monitoring. Treatment improves growth and longevity, and reduces hospitalizations.